Aliases for MT-TR Gene

Data sources for MT-TR Gene:

RNA type for MT-TR Gene

tRNA

Aliases for MT-TR Gene

External Ids for MT-TR Gene

Previous HGNC Symbols for MT-TR Gene

  • MTTR

Previous GeneCards Identifiers for MT-TR Gene

  • GC00U921611

Summaries for MT-TR Gene

GeneCards Summary for MT-TR Gene

MT-TR (Mitochondrially Encoded TRNA-Arg (CGN)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TR include Mitochondrial Encephalomyopathy and Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes. Among its related pathways are tRNA Aminoacylation.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MT-TR Gene

Genomics for MT-TR Gene

Genomic Locations for MT-TR Gene

Latest Assembly
chrMT:10,402-10,469
(GRCh38/hg38)
Size:
68 bases
Orientation:
Plus strand

Previous Assembly
chrMT:10,405-10,469
(GRCh37/hg19 by Ensembl)
Size:
65 bases
Orientation:
Plus strand

Genomic View for MT-TR Gene

Genes around MT-TR on UCSC Golden Path with GeneCards custom track
MT-TR in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TR Gene

No data available for GeneHancer (GH) Regulatory Elements for MT-TR Gene

Proteins for MT-TR Gene

Post-translational modifications for MT-TR Gene

No Post-translational modifications

No data available for DME Specific Peptides for MT-TR Gene

Domains & Families for MT-TR Gene

Gene Families for MT-TR Gene

genes like me logo Genes that share domains with MT-TR: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MT-TR Gene

Function for MT-TR Gene

CRISPR products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MT-TR Gene

Localization for MT-TR Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MT-TR gene
Compartment Confidence
mitochondrion 2
nucleus 2
extracellular 1
cytosol 1
golgi apparatus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for MT-TR Gene

Pathways & Interactions for MT-TR Gene

PathCards logo

SuperPathways for MT-TR Gene

SuperPathway Contained pathways
1 tRNA Aminoacylation
genes like me logo Genes that share pathways with MT-TR: view

Pathways by source for MT-TR Gene

1 KEGG pathway for MT-TR Gene

Gene Ontology (GO) - Biological Process for MT-TR Gene

None

No data available for Interacting Proteins and SIGNOR curated interactions for MT-TR Gene

Drugs & Compounds for MT-TR Gene

No Compound Related Data Available

Transcripts for MT-TR Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for MT-TR Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS00005983A6_9606 tRNA 65 2

Ensembl: ENST00000387439 (view in UCSC) ,

ENA: View 49491 records in RNAcentral

URS0000006BBF_9606 tRNA 65 1

ENA: HM852810.1:10404..10468:tRNA, JQ705690.1:10407..10471:tRNA, KP773298.1:10406..10470:tRNA,

URS000000EA5A_9606 tRNA 65 1

ENA: JX081998.1:10406..10470:tRNA,

URS00000AB29D_9606 tRNA 65 1

ENA: JQ705796.1:10406..10470:tRNA,

URS00000B8C3F_9606 tRNA 65 1

ENA: View 8 records in RNAcentral

MT-TR in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Alternative Splicing Database (ASD) splice patterns (SP) for MT-TR Gene

No ASD Table

Relevant External Links for MT-TR Gene

GeneLoc Exon Structure for
MT-TR

No data available for mRNA/cDNA for MT-TR Gene

Expression for MT-TR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MT-TR Gene

genes like me logo Genes that share expression patterns with MT-TR: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-TR Gene

Orthologs for MT-TR Gene

Evolution for MT-TR Gene

ENSEMBL:
Gene Tree for MT-TR (if available)
TreeFam:
Gene Tree for MT-TR (if available)
Alliance of Genome Resources:
Additional Orthologs for MT-TR

No data available for Orthologs for MT-TR Gene

Paralogs for MT-TR Gene

No data available for Paralogs for MT-TR Gene

Variants for MT-TR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-TR Gene

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
430677 Pathogenic: Mitochondrial diseases 7,729(+) AAAACTAACTAATACT
NC_012920.1:m.7730_11255del3526
INITIATIOR_CODON_VARIANT,FRAMESHIFT
rs121434456 Pathogenic: Mitochondrial encephalomyopathy 10,438(+) A/G
m.10438A>G
rs1556423809 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 10,427(+) G/A
NC_012920.1(MT-CYB):m.10427G>A
rs1603222825 Uncertain Significance: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 10,405(+) T/C
NC_012920.1(MT-CYB):m.10405T>C
rs1603222826 Likely Pathogenic: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 10,406(+) G/A
NC_012920.1(MT-CYB):m.10406G>A

Additional Variant Information for MT-TR Gene

Human Gene Mutation Database (HGMD)
MT-TR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-TR
Leiden Open Variation Database (LOVD)
MT-TR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , dbSNP identifiers (rs#s) for variants without ClinVar clinical significance , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-TR Gene

Disorders for MT-TR Gene

MalaCards: The human disease database

(10) MalaCards diseases for MT-TR Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MT-TR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MT-TR

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MT-TR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MT-TR Gene

Publications for MT-TR Gene

  1. Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. (PMID: 15286228) Uusimaa J … Majamaa K (Pediatrics 2004) 3 40 72
  2. Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A. (PMID: 11807892) Rady PL … Matalon RK (American journal of medical genetics 2002) 3 40
  3. Interpretation of mitochondrial tRNA variants. (PMID: 31965079) Wong LC … Craigen WJ (Genetics in medicine : official journal of the American College of Medical Genetics 2020) 72
  4. A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy. (PMID: 22781096) Roos S … Oldfors A (European journal of human genetics : EJHG 2013) 3
  5. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. (PMID: 19758471) Bhardwaj A … Tiwari S (BMC bioinformatics 2009) 3

Products for MT-TR Gene

Sources for MT-TR Gene